Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
2 associated genes
4 signs/symptoms
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Localized epidermolysis bullosa simplex

CBL KRT14
KRT5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CBL
CBL
(0.63)
(0.63)
KRT14
KRT5



Citations in the biomedical literature:


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
CBL
Localized epidermolysis bullosa simplex
KRT14 KRT5



Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Localized epidermolysis bullosa simplex

Synonym(s):
- CBL syndrome
- Noonan syndrome-like disorder with JMML

Synonym(s):
- EBS-loc
- Epidermolysis bullosa simplex of palms and soles
- Epidermolysis bullosa simplex, Weber-Cockayne type

Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Localized epidermolysis bullosa simplex

Very frequent
- Autosomal dominant inheritance
- Ecchymoses
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Hyperhidrosis / increased sweating



Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

(no data available)